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  • Title: Ptosis, down-slanting palpebral fissures, hypertelorism, seizures and mental retardation: a possible new MCA/MR syndrome.
    Author: Mégarbané A, Le Merrer M, el Kallab K.
    Journal: Clin Dysmorphol; 1997 Jul; 6(3):239-44. PubMed ID: 9220194.
    Abstract:
    We present a family with six children of first cousin parents, in which three present with microcephaly, hypertelorism, down-slanting palpebral fissures, ptosis, a broad nasal tip, a short webbed neck, mental retardation and seizures. Two differential diagnosis, the Noonan and the Baraitser-Winter syndrome are discussed. The possibility of the description of a new MCA/MR syndrome is raised.
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